~ Thalassemias ~

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What Is Thalassemia?

Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body.

How Many Types Of Thalassemia Are There ?

The are two main types of thalassemias (depending on which part of an oxygen-carrying protein in the red blood
cells is lacking and there are different severity of each type)

Alpha (Trait / Minor, Intermediate, Major)

Beta (Trait / Minor, Intermediate, Major)

Alpha

Alpha Thalassemia Trait or Mild Alpha Thalassemia- In this condition, the lack of alpha protein is somewhat greater. Patients with this condition have smaller red blood cells and a mild anemia, although many patients do not experience symptoms. However, physicians often mistake mild alpha thalassemia for iron deficiency anemia and prescribe iron supplements that have no effect on the anemia.

Hemoglobin H Disease - In this condition, the lack of alpha protein is great enough to cause severe anemia and serious health problems such as an enlarged spleen, bone deformities and fatigue. It is named for the abnormal hemoglobin H (created by the remaining beta globin) that destroys red blood cells.

Hemoglobin H-Constant Spring - This condition is more severe than hemoglobin H disease. Individuals with this condition tend to have a more severe anemia and suffer more frequently from enlargement of the spleen and viral infections.

Homozygous Constant Spring - This condition is a variation of hemoglobin H-Constant Spring that occurs when two Constant Spring carriers pass their genes on to their child (as opposed to hemoglobin H Constant Spring, in which one parent is a Constant Spring Carrier and the other a carrier of alpha thalassemia trait). This condition is generally less severe than hemoglobin H Constant Spring and more similar to hemoglobin H disease.

Hydrops Fetalis or Alpha Thalassemia Major - In this condition, there are no alpha genes in the individual's DNA, which causes the gamma globins produced by the fetus to form an abnormal hemoglobin called hemoglobin Barts. Most individuals with this condition die before or shortly after birth. In some extremely rare cases where the condition is discovered before birth, in utero blood transfusions have allowed the birth of children with hydrops fetalis who then require lifelong blood transfusions and medical care.

Beta

Thalassemia Minor or Thalassemia Trait- In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements.

Thalassemia Intermedia - In this condition the lack of beta protein in the hemoglobin is great enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. However, there is a wide range in the clinical severity of this condition, and the borderline between thalassemia intermedia and the most severe form, thalassemia major, can be confusing. The deciding factor seems to be the amount of blood transfusions required by the patient. The more dependent the patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.

Thalassemia Major or Cooley's Anemia - This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.

Alpha Thalssemia

Beta Thalssemia

Other Forms Of Thalssemia

In addition to the alpha and beta thalassemias, there are other related disorders that occur when the gene for alpha or beta thalassemia combines with an abnormal or mutant gene.E Beta Thalassemia. Hemoglobin E - is one of the most common abnormal hemoglobins. It is usually found in people of Southeast Asian ancestry, such as Cambodians, Vietnamese and Thai. When combined with beta thalassemia, hemoglobin E produces E beta thalassemia, a moderately severe anemia which is similar in symptoms to beta thalassemia intermedia.

Sickle Beta Thalassemia - This condition is caused by a combination of beta thalassemia and hemoglobin S, the abnormal hemoglobin found in people with sickle cell disease. It is commonly found in people of Mediterranean ancestry, such as Italians, Greeks and Turks. The condition varies according to the amount of normal beta globin produced by the beta gene. The condition is almost identical with sickle cell disease. The more beta globin produced by the beta gene, the less severe the condition.

What is the Difference Between Alpha Thalssemia & Beta Thalassemia?

Alpha-thalassemia and beta-thalassemia describe which chain of hemoglobin, the alpha or the beta subunit, is affected. Although alpha-thalassemia and beta-thalassemia share similar characteristics, both are distinctive in their management.

*Note: While alpha thalassemia may be associated with minor problems, it is the beta thalassemias which are the more clinically significant.

Alpha

Alpha thalassemia, the heterozygous state with a single gene for alpha thalassemia, causes no symptoms or merely mild anemia because there is another gene still able to make alpha chains. But the homozygous state with both genes for alpha thalassemia is lethal before birth because no alpha chains can be made and without alpha chains there can be no Hb F or Hb A and without them there can be no life.

Beta

In beta thalassemia, the heterozygous state (called thalassemia minor) is accompanied by no symptoms or at most by very mild anemia. The homozygous form of beta thalassemia (thalassemia major) is not immediately lethal because there is some production of Hb F, which does not contain beta chains. However, there is severe anemia with complications including progressive enlargement of the liver, spleen and heart and malformation of bones.

Which Types Of Thalssemia Is The Worst?

Alpha Thalassemia Major

This a very serious disease in which severe
anemia begins even before birth and survival past the first few hours
of life is rare. Pregnant women carrying affected fetuses are
themselves at risk for serious pregnancy and delivery complications.

Beta-Thalssemia Major also know as Cooley's Anemia Is A Serious IllnessThis is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.Symptoms appear in the first two years of life and include paleness of
the skin, jaundice, poor appetite, irritability, and failure to grow.Without
treatment, the spleen, liver and heart soon become greatly enlarged.
Bones become thin and brittle.

How is Thalssemia Inherited?

Heart failure and infection are the leading causes of death among children with untreated thalassemia major. The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Frequent transfusions keep their hemoglobin levels near normal and prevent many of the complications of the disease. But repeated blood transfusions lead to iron overload - a buildup of iron in the body - that can damage the heart, liver and other organs. Drugs known as "iron chelators" can help rid the body of excess iron, preventing or delaying problems related to iron overload.

Prior knowledge & reports for school

Other sources:http://www.genome.gov/10001221http://www.amnacentre.com/thalassemia/http://www.thalassemia.org/index.php?option=com_content&view=article&id=19&Itemid=27